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Nonsyndromal overgrowth in males with mild psychomotor delay.


Neri, G; Steindl, Katharina; Mazzei, A; Battaglia, A; Cappa, M (1998). Nonsyndromal overgrowth in males with mild psychomotor delay. American Journal of Medical Genetics. Part A, 79(4):291-293.

Abstract

Over the last 3 years we ascertained 42 patients for statural overgrowth and/or macrocephaly, who also had mild developmental delay. There were 39 males and three females, two of whom were sisters. In no case was tall stature a familial characteristic. Family history was unremarkable, except for the case of the two sisters. Physical examination did not demonstrate any consistent pattern of malformations or anomalies identifying a syndrome, known or unknown. Chromosomes were apparently normal and the molecular test for the fragile X syndrome yielded normal results in all cases. Muscular hypotonia, advanced bone age, and epilepsy were relatively consistent manifestations. The hypothalamus-pituitary axis seemed to be intact when tested through the blood levels of insulin-like growth factors I and II and of the insulin-like growth binding protein 3, and the excess of growth was apparently growth hormone independent. The condition comprising excessive growth, developmental delay, muscular hypotonia, absence of a consistent pattern of physical anomalies, and apparently sporadic occurrence, largely limited to males, may be heterogenous.

Abstract

Over the last 3 years we ascertained 42 patients for statural overgrowth and/or macrocephaly, who also had mild developmental delay. There were 39 males and three females, two of whom were sisters. In no case was tall stature a familial characteristic. Family history was unremarkable, except for the case of the two sisters. Physical examination did not demonstrate any consistent pattern of malformations or anomalies identifying a syndrome, known or unknown. Chromosomes were apparently normal and the molecular test for the fragile X syndrome yielded normal results in all cases. Muscular hypotonia, advanced bone age, and epilepsy were relatively consistent manifestations. The hypothalamus-pituitary axis seemed to be intact when tested through the blood levels of insulin-like growth factors I and II and of the insulin-like growth binding protein 3, and the excess of growth was apparently growth hormone independent. The condition comprising excessive growth, developmental delay, muscular hypotonia, absence of a consistent pattern of physical anomalies, and apparently sporadic occurrence, largely limited to males, may be heterogenous.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:2 October 1998
Deposited On:25 Nov 2020 18:31
Last Modified:26 Nov 2020 21:00
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(SICI)1096-8628(19981002)79:4<291::AID-AJMG11>3.0.CO;2-M
PubMed ID:9781910

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